Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis

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Abstract
In the course of presymptomatic diagnosis in families with familial adenomatous polyposis (FAP) we screened 202 unrelated patients for mutations in the 20.8% of the index patients by a single step screening procedure based on heteroduplex analysis of a PCR product encompassing codons 1027–1384 of the APC gene. The most common mutations in our sample were a 5 bp deletion at codon 1309 in 9% of the familles, a5 bp deletion at codon 1061 in 5% and a 4 bp deletion at codon 1068 in 2.5% of the families. In addition, 11 novel mutations localized within the exons 11–15 of the APC gene were identified by the heteroduplex or SSCP methods.

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